Mutation Details for c.3353C>T
|
|
cDNA Name
|
c.3353C>T
|
|
Protein Name
|
p.Ser1118Phe
|
|
Exon or Intron
|
exon 20
|
|
Legacy Exon or Intron
|
exon 17b
|
|
|
S1118F
|
|
Other Details
|
CF patient.
|
|
Contributors
|
Férec C
1998-12-23
|
|
Institute
|
Laboratoire de Biogénétique,
University of Brest
Brest, France
|
|
Submitted Phenotype Details
|
The mutation was found in a Czech CF patient. (pers.corr. Ferec)
|
|
Reference
|
Férec 1998
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
